MTHFR C677T polymorphism and cerebrovascular lesions in elderly patients with CSVD: A correlation analysis

Zhuoran Li1, Xiaoyan Wu2, Haowei Huang3

  • 1Department of Radiology, Guangzhou Red Cross Hospital of Jinan University, Guangzhou, Guangdong, China.

Frontiers in Genetics
|October 10, 2022
PubMed

Insights

The 5,10-methylenetetrahydrofolate reductase (MTHFR) TT genotype is linked to higher homocysteine levels and increased risk of white matter lesions in elderly patients with cerebral small vessel disease (CSVD). Early MTHFR gene screening and risk factor intervention can help prevent cognitive decline in CSVD.

Area of Science:

  • Neuroscience
  • Genetics
  • Gerontology

Background:

  • Cerebral small vessel disease (CSVD) is a common condition in older adults, often leading to cognitive impairment and depression.
  • Elevated plasma homocysteine (Hcy) levels are implicated as a risk factor for CSVD.
  • The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in homocysteine metabolism.

Purpose of the Study:

  • To investigate the association between the MTHFR C677T polymorphism and CSVD in elderly individuals.
  • To determine the relationship between MTHFR genotypes, plasma homocysteine levels, and cerebrovascular lesions.

Main Methods:

  • Assessed plasma homocysteine levels and performed MTHFR genotyping in elderly patients.
  • Utilized MRI and MRA to evaluate cerebrovascular lesions, including white matter hyperintensities (WMH).
  • Employed multivariate logistic regression analysis to identify independent risk factors for WMH.

Main Results:

  • Plasma Hcy levels were significantly higher in individuals with the MTHFR TT genotype compared to CC and CT genotypes.
  • The severity of white matter lesions correlated with age, female sex, coronary heart disease, lacunar infarction, and MTHFR polymorphism.
  • The MTHFR TT genotype and lacunar infarction were identified as independent risk factors for WMH.

Conclusions:

  • A significant correlation exists between plasma Hcy levels and MTHFR gene polymorphism, with the TT genotype being an independent risk factor for WMH in CSVD patients.
  • Early detection of MTHFR gene polymorphisms and proactive management of risk factors are recommended to mitigate cognitive impairment in elderly CSVD patients.